Item Type | Name |
Concept
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Mutation
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Concept
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Germ-Line Mutation
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Concept
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Point Mutation
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Concept
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Mutation, Missense
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Academic Article
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TTID: A novel gene at 5q31 encoding a protein with titin-like features.
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Academic Article
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Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene.
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Academic Article
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Therapy-related myeloid leukemia.
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Academic Article
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Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation.
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Academic Article
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Gene mutations, epigenetic dysregulation, and personalized therapy in myeloid neoplasia: are we there yet?
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Academic Article
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Inhibition of TET2-mediated conversion of 5-methylcytosine to 5-hydroxymethylcytosine disturbs erythroid and granulomonocytic differentiation of human hematopoietic progenitors.
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Academic Article
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TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis.
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Academic Article
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Characterization of NOL7 gene point mutations, promoter methylation, and protein expression in cervical cancer.
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Academic Article
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Effects of TET2 mutations on DNA methylation in chronic myelomonocytic leukemia.
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Academic Article
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Dnmt3a is essential for hematopoietic stem cell differentiation.
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Academic Article
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Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
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Academic Article
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Profiles in leukemia.
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Academic Article
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Wild-type p53 transgenic mice exhibit altered differentiation of the ureteric bud and possess small kidneys.
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Academic Article
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Implications of FLT3 mutations in the therapy of acute myeloid leukemia.
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Academic Article
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Getting to the root of the stem cell in mutated chronic myeloid leukemia.
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Academic Article
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Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.
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Academic Article
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Defining the steps in a multistep mouse model for mammary carcinogenesis.
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Academic Article
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Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia.
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Academic Article
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2-Hydroxyglutarate in IDH mutant acute myeloid leukemia: predicting patient responses, minimal residual disease and correlations with methylcytosine and hydroxymethylcytosine levels.
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Academic Article
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Perturbations of 5-hydroxymethylcytosine patterning in hematologic malignancies.
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Academic Article
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Hydroxymethylation at gene regulatory regions directs stem/early progenitor cell commitment during erythropoiesis.
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Academic Article
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Inherited predisposition to acute myeloid leukemia.
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Academic Article
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DNA hydroxymethylation profiling reveals that WT1 mutations result in loss of TET2 function in acute myeloid leukemia.
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Academic Article
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Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
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Academic Article
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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
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Academic Article
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A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.
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Academic Article
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Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations.
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Academic Article
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The mechanistic role of DNA methylation in myeloid leukemogenesis.
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Academic Article
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TET2 Mutations Affect Non-CpG Island DNA Methylation at Enhancers and Transcription Factor-Binding Sites in Chronic Myelomonocytic Leukemia.
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Academic Article
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Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
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Academic Article
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Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
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Academic Article
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Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
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Academic Article
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Fumarate and Succinate Regulate Expression of Hypoxia-inducible Genes via TET Enzymes.
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Academic Article
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Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
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Academic Article
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How I diagnose and manage individuals at risk for inherited myeloid malignancies.
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Academic Article
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Germline ETV6 mutations and predisposition to hematological malignancies.
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Academic Article
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Recognition of familial myeloid neoplasia in adults.
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Academic Article
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Therapy-related myeloid neoplasms: when genetics and environment collide.
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Academic Article
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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
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Academic Article
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Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.
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Academic Article
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Identifying patients with genetic predisposition to acute myeloid leukemia.
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Academic Article
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Somatic mutation panels: Time to clear their names.
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Academic Article
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FouNdER mutations confer risk for leukemias.
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Academic Article
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Inherited predisposition to myeloid malignancies.
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Academic Article
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
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Academic Article
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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
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Academic Article
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Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome.
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Academic Article
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Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.
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Academic Article
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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
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Academic Article
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Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
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Academic Article
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Identifying potential germline variants from sequencing hematopoietic malignancies.
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Academic Article
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Identifying potential germline variants from sequencing hematopoietic malignancies.
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Academic Article
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Germline mutations in MDS/AML predisposition disorders.
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Academic Article
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Germline variants drive myelodysplastic syndrome in young adults.
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Academic Article
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Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities.
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Academic Article
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Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
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Academic Article
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Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.
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Academic Article
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Clinical features and survival outcomes in patients with chronic myelomonocytic leukemia arising in the context of germline predisposition syndromes.
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Academic Article
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Germline predisposition to hematopoietic malignancies.
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Academic Article
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
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Academic Article
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Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
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Academic Article
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Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN.
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Academic Article
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Clinical and molecular response of acute myeloid leukemia harboring non-canonical FLT3 N676K driver mutations to contemporary FLT3 inhibitors.
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Academic Article
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Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
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Academic Article
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Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation.
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Academic Article
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Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
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Academic Article
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DDX41-associated susceptibility to myeloid neoplasms.
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Academic Article
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Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.
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Academic Article
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Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.
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Academic Article
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(R)-2-Hydroxyglutarate Inhibits KDM5 Histone Lysine Demethylases to Drive Transformation in IDH-Mutant Cancers.
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Grant
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The Role of DNMT3B in the DNA Methylation of Cancer Cells
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Academic Article
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Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.
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Academic Article
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Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
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Academic Article
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Germline predisposition to clonal hematopoiesis.
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Academic Article
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Sequential tumor molecular profiling identifies likely germline variants.
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Academic Article
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Acute lymphoblastic leukemia with myeloid mutations is a high-risk disease associated with clonal hematopoiesis.
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Academic Article
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Insights into the Molecular Mechanisms of Genetic Predisposition to Hematopoietic Malignancies: The Importance of Gene-Environment Interactions.
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Academic Article
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Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
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